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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 8-144513323-CACAGCCCGCACATCTGGCCGGT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144513323&ref=CACAGCCCGCACATCTGGCCGGT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144513323,
"ref": "CACAGCCCGCACATCTGGCCGGT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001413019.1",
"consequences": [
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2336_2357delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp779fs",
"transcript": "NM_004260.4",
"protein_id": "NP_004251.4",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000617875.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004260.4"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2336_2357delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp779fs",
"transcript": "ENST00000617875.6",
"protein_id": "ENSP00000482313.2",
"transcript_support_level": 1,
"aa_start": 779,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004260.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617875.6"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1265_1286delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp422fs",
"transcript": "ENST00000621189.4",
"protein_id": "ENSP00000483145.1",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 851,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621189.4"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2336_2357delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp779fs",
"transcript": "NM_001413019.1",
"protein_id": "NP_001399948.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413019.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2336_2357delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp779fs",
"transcript": "NM_001413036.1",
"protein_id": "NP_001399965.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2336,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413036.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2306_2327delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp769fs",
"transcript": "NM_001413039.1",
"protein_id": "NP_001399968.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2306,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413039.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2243_2264delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp748fs",
"transcript": "ENST00000971710.1",
"protein_id": "ENSP00000641769.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2243,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971710.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2240_2261delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp747fs",
"transcript": "NM_001413020.1",
"protein_id": "NP_001399949.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 1176,
"cds_start": 2240,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413020.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2207_2228delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp736fs",
"transcript": "NM_001413025.1",
"protein_id": "NP_001399954.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2207,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413025.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2204_2225delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp735fs",
"transcript": "NM_001413033.1",
"protein_id": "NP_001399962.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2204,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413033.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2204_2225delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp735fs",
"transcript": "ENST00000887977.1",
"protein_id": "ENSP00000558036.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2204,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887977.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2174_2195delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp725fs",
"transcript": "ENST00000922086.1",
"protein_id": "ENSP00000592145.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922086.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1985_2006delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp662fs",
"transcript": "NM_001413029.1",
"protein_id": "NP_001399958.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1985,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413029.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1892_1913delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp631fs",
"transcript": "ENST00000922087.1",
"protein_id": "ENSP00000592146.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1060,
"cds_start": 1892,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922087.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1265_1286delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp422fs",
"transcript": "NM_001413023.1",
"protein_id": "NP_001399952.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 876,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413023.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1199_1220delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp400fs",
"transcript": "NM_001413041.1",
"protein_id": "NP_001399970.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 854,
"cds_start": 1199,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413041.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1265_1286delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp422fs",
"transcript": "NM_001413021.1",
"protein_id": "NP_001399950.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 851,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413021.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1265_1286delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp422fs",
"transcript": "NM_001413022.1",
"protein_id": "NP_001399951.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 851,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413022.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1265_1286delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp422fs",
"transcript": "NM_001413024.1",
"protein_id": "NP_001399953.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 851,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413024.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1265_1286delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp422fs",
"transcript": "NM_001413028.1",
"protein_id": "NP_001399957.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 851,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413028.1"
},
{
"aa_ref": "DRPDVRAV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.1265_1286delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp422fs",
"transcript": "NM_001413034.1",
"protein_id": "NP_001399963.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 851,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413034.1"
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"gene_hgnc_id": null,
"hgvs_c": "n.272-282_272-261delACAGCCCGCACATCTGGCCGGT",
"hgvs_p": null,
"transcript": "ENST00000580385.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000580385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.*226_*247delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": null,
"transcript": "ENST00000532846.2",
"protein_id": "ENSP00000476551.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532846.2"
}
],
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"dbsnp": "rs1554898257",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.8,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001413019.1",
"gene_symbol": "RECQL4",
"hgnc_id": 9949,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2336_2357delACCGGCCAGATGTGCGGGCTGT",
"hgvs_p": "p.Asp779fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000580385.1",
"gene_symbol": "ENSG00000265393",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.272-282_272-261delACAGCCCGCACATCTGGCCGGT",
"hgvs_p": null
}
],
"clinvar_disease": "Rothmund-Thomson syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Rothmund-Thomson syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}